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Items: 1 to 20 of 105

1.

A novel CACNA1A mutation results in episodic ataxia with migrainous features without headache.

Magis D, Boon E, Coppola G, Daron A, Schoenen J.

Cephalalgia. 2012 Nov;32(15):1147-9. doi: 10.1177/0333102412459572.

PMID:
22942164
2.

Familial episodic ataxia: a model for migrainous vertigo.

Jen JC, Baloh RW.

Ann N Y Acad Sci. 2009 May;1164:252-6. doi: 10.1111/j.1749-6632.2008.03723.x.

PMID:
19645908
3.

Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood.

Bertholon P, Chabrier S, Riant F, Tournier-Lasserve E, Peyron R.

J Neurol Neurosurg Psychiatry. 2009 Nov;80(11):1289-92. doi: 10.1136/jnnp.2008.159103.

PMID:
19864665
4.

Stepwise developmental regression associated with novel CACNA1A mutation.

Guerin AA, Feigenbaum A, Donner EJ, Yoon G.

Pediatr Neurol. 2008 Nov;39(5):363-4. doi: 10.1016/j.pediatrneurol.2008.07.030.

PMID:
18940563
5.

Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification.

Cleves C, Parikh S, Rothner AD, Tepper SJ.

Cephalalgia. 2010 Jun;30(6):740-3. doi: 10.1111/j.1468-2982.2009.01958.x.

PMID:
19624685
6.

Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies. Dutch Migraine Genetics Research Group.

Terwindt GM, Ophoff RA, Haan J, Sandkuijl LA, Frants RR, Ferrari MD.

Eur J Hum Genet. 1998 Jul-Aug;6(4):297-307. Review.

PMID:
9781035
7.

Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.

Ducros A, Denier C, Joutel A, Vahedi K, Michel A, Darcel F, Madigand M, Guerouaou D, Tison F, Julien J, Hirsch E, Chedru F, Bisgård C, Lucotte G, Després P, Billard C, Barthez MA, Ponsot G, Bousser MG, Tournier-Lasserve E.

Am J Hum Genet. 1999 Jan;64(1):89-98.

PMID:
9915947
8.

Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation.

Marti S, Baloh RW, Jen JC, Straumann D, Jung HH.

Eur Neurol. 2008;60(1):16-20. doi: 10.1159/000127974.

PMID:
18437043
9.

De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia.

Yue Q, Jen JC, Thwe MM, Nelson SF, Baloh RW.

Am J Med Genet. 1998 May 26;77(4):298-301.

PMID:
9600739
10.

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C.

J Neurol Sci. 2010 Apr 15;291(1-2):30-6. doi: 10.1016/j.jns.2010.01.010.

PMID:
20129625
11.

CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid.

Scoggan KA, Friedman JH, Bulman DE.

Can J Neurol Sci. 2006 Feb;33(1):68-72.

PMID:
16583725
12.

Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

Hu Y, Jiang H, Wang Q, Xie Z, Pan S.

PLoS One. 2013;8(2):e56362. doi: 10.1371/journal.pone.0056362.

PMID:
23441182
13.

Clinical spectrum of episodic ataxia type 2.

Jen J, Kim GW, Baloh RW.

Neurology. 2004 Jan 13;62(1):17-22.

PMID:
14718690
14.

Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.

Nachbauer W, Nocker M, Karner E, Stankovic I, Unterberger I, Eigentler A, Schneider R, Poewe W, Delazer M, Boesch S.

J Neurol. 2014 May;261(5):983-91. Review.

PMID:
24658662
15.

CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.

Robbins MS, Lipton RB, Laureta EC, Grosberg BM.

Headache. 2009 Jul;49(7):1042-6. doi: 10.1111/j.1526-4610.2009.01464.x.

PMID:
19486177
16.

Phenotypic variability of episodic ataxia type 2 mutations: a family study.

Jung J, Testard H, Tournier-Lasserve E, Riant F, Vallet AE, Berroir S, Broussolle E.

Eur Neurol. 2010;64(2):114-6. doi: 10.1159/000315145.

PMID:
20639635
17.

Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.

Friend KL, Crimmins D, Phan TG, Sue CM, Colley A, Fung VS, Morris JG, Sutherland GR, Richards RI.

Hum Genet. 1999 Sep;105(3):261-5.

PMID:
10987655
18.

Episodic ataxia type 2: an uncommon inherited CNS channelopathies.

Pulkes T.

J Med Assoc Thai. 2003 Apr;86(4):376-80.

PMID:
12757085
19.

Novel CACNA1A mutation(s) associated with slow saccade velocities.

Kipfer S, Jung S, Lemke JR, Kipfer-Kauer A, Howell JP, Kaelin-Lang A, Nyffeler T, Gutbrod K, Abicht A, Müri RM.

J Neurol. 2013 Dec;260(12):3010-4. doi: 10.1007/s00415-013-7099-4.

PMID:
24046065
20.

Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.

Barros J, Damásio J, Tuna A, Alves I, Silveira I, Pereira-Monteiro J, Sequeiros J, Alonso I, Sousa A, Coutinho P.

JAMA Neurol. 2013 Feb;70(2):235-40. doi: 10.1001/jamaneurol.2013.591.

PMID:
23407676
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